CFTR c.3743_3744delinsTT ;(p.S1248F)

Variant ID: 7-117282517-CA-TT

NM_000492.3(CFTR):c.3743_3744delinsTT;(p.S1248F)

This variant was identified in 4 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Mutating the Conserved Q-loop Glutamine 1291 Selectively Disrupts Adenylate Kinase-dependent Channel Gating of the ATP-binding Cassette (ABC) Adenylate Kinase Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) and Reduces Channel Function in Primary Human Airway Epithelia.

The Journal Of Biological Chemistry
Dong, Qian Q; Ernst, Sarah E SE; Ostedgaard, Lynda S LS; Shah, Viral S VS; Ver Heul, Amanda R AR; Welsh, Michael J MJ; Randak, Christoph O CO
Publication Date: 2015-05-29

Variant appearance in text: CFTR: S1248F
PubMed Link: 25887396
Variant Present in the following documents:
  • Main text
  • zbc14140.pdf
View BVdb publication page


ATP and AMP mutually influence their interaction with the ATP-binding cassette (ABC) adenylate kinase cystic fibrosis transmembrane conductance regulator (CFTR) at separate binding sites.

The Journal Of Biological Chemistry
Randak, Christoph O CO; Dong, Qian Q; Ver Heul, Amanda R AR; Elcock, Adrian H AH; Welsh, Michael J MJ
Publication Date: 2013-09-20

Variant appearance in text: CFTR: S1248F
PubMed Link: 23921386
Variant Present in the following documents:
  • Main text
View BVdb publication page


Demonstration of phosphoryl group transfer indicates that the ATP-binding cassette (ABC) transporter cystic fibrosis transmembrane conductance regulator (CFTR) exhibits adenylate kinase activity.

The Journal Of Biological Chemistry
Randak, Christoph O CO; Ver Heul, Amanda R AR; Welsh, Michael J MJ
Publication Date: 2012-10-19

Variant appearance in text: CFTR: S1248F
PubMed Link: 22948143
Variant Present in the following documents:
  • Main text
  • zbc36105.pdf
View BVdb publication page


Normal gating of CFTR requires ATP binding to both nucleotide-binding domains and hydrolysis at the second nucleotide-binding domain.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Berger, Allan L AL; Ikuma, Mutsuhiro M; Welsh, Michael J MJ
Publication Date: 2005-01-11

Variant appearance in text: CFTR: S1248F
PubMed Link: 15623556
Variant Present in the following documents:
  • Main text
View BVdb publication page